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Table 6 Malformative syndrome

From: Bone fragility in patients affected by congenital diseases non skeletal in origin

Disease

OMIM phenotype number

OMIM gene/locus number

Gene

Chromosome location

Bone phenotype

(specific signs and symptoms)

Bone

biochemical markers

Tricho-rhino-phalangeal syndrome, type I

190350

604386

TRPS1

8q23.3

Craniofacial abnormalities and disturbances in formation and maturation of bone matrix. Clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature, hip joint malformations, joint pain (late-onset), osteopenia (late-onset), osteoarthritis (late-onset), scoliosis, lordosis, coxa plana, coxa magna, flattened capital femoral epiphyses, swelling of proximal interphalangeal joints, short metacarpals, short metatarsals, and pes planus, osteoporosis

NR

  1. Bone biochemical markers acronyms present in the Tables
  2. BSAP bone specific alkaline phosphatase, NTX corss-linked N-telopeptide of type I collagen, OCN osteocalcin, DPD deoxypyridinoline, PYR pyridinoline, CTX corss-linked C-telopeptide of type I collagen, OPG osteoprotegerin, PTH parathyroid hormone, 25 (OH) D3 25 hydroxyvitamin D3, IL-1α interleukin 1 alpha, TNF-α tumor necrosis factor alpha, IL-6 Interleukin 6, P1NP Procollagen type 1N-terminal propeptide
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172